Synonyms: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
A rare genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation retinopathy microcephaly intellectual disability and dysmorphic features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Roifman syndrome?
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Advocacy Organizations
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Immunocompromised Association
Immunocompromised Association promotes awareness, education, and support for immunocompromised individuals to reduce their inherent health risks in the community.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Project Clio
To improve our understanding of rare and understudied autoimmune conditions
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
accessia health
Accessia Health, a national charitable patient assistance organization, is dedicated to eliminating healthcare barriers for people with rare or chronic health conditions. Comprehensive services include personalized case management, financial assistance, education, and legal aid support. Our flexible funding model goes beyond copays, allowing individuals to pay for other essential medical expenses
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Clinical Trials
For a list of clinical trials in this disease area, please click here.